UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68781882G>A | CA340854 | CPT1A | c.1241C>T (p.Ala414Val) c.1337C>T (p.Ala446Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781882G>C | CA381631653 | CPT1A | c.1241C>G (p.Ala414Gly) c.1337C>G (p.Ala446Gly) | gnomAD v4 |
| 11 | g.68781882G= | CA2581028851 | CPT1A | c.1241C= (p.Ala414=) c.1337C= (p.Ala446=) | |
| 11 | g.68781882G>T | CA381631655 | CPT1A | c.1241C>A (p.Ala414Glu) c.1337C>A (p.Ala446Glu) | |
| 11 | g.68781883C>A | CA381631661 | CPT1A | c.1240G>T (p.Ala414Ser) c.1336G>T (p.Ala446Ser) | |
| 11 | g.68781883C>G | CA381631657 | CPT1A | c.1240G>C (p.Ala414Pro) c.1336G>C (p.Ala446Pro) | gnomAD v4 |
| 11 | g.68781883C>T | CA381631659 | CPT1A | c.1240G>A (p.Ala414Thr) c.1336G>A (p.Ala446Thr) | |
| 11 | g.68781884T>A | CA381631663 | CPT1A | c.1239A>T (p.Lys413Asn) c.1335A>T (p.Lys445Asn) | |
| 11 | g.68781884T>C | CA475195562 | CPT1A | c.1239A>G (p.Lys413=) c.1335A>G (p.Lys445=) | ClinVar dbSNP |
| 11 | g.68781884T>G | CA381631665 | CPT1A | c.1239A>C (p.Lys413Asn) c.1335A>C (p.Lys445Asn) | |
| 11 | g.68781885T>A | CA381631667 | CPT1A | c.1238A>T (p.Lys413Ile) c.1334A>T (p.Lys445Ile) | |
| 11 | g.68781885T>C | CA381631668 | CPT1A | c.1238A>G (p.Lys413Arg) c.1334A>G (p.Lys445Arg) | |
| 11 | g.68781885T>G | CA381631669 | CPT1A | c.1238A>C (p.Lys413Thr) c.1334A>C (p.Lys445Thr) | |
| 11 | g.68781886T>A | CA381631675 | CPT1A | c.1237A>T (p.Lys413Ter) c.1333A>T (p.Lys445Ter) | |
| 11 | g.68781886T>C | CA381631673 | CPT1A | c.1237A>G (p.Lys413Glu) c.1333A>G (p.Lys445Glu) | |
| 11 | g.68781886T>G | CA381631671 | CPT1A | c.1237A>C (p.Lys413Gln) c.1333A>C (p.Lys445Gln) | |
| 11 | g.68781887C>A | CA381631677 | CPT1A | c.1236G>T (p.Glu412Asp) c.1332G>T (p.Glu444Asp) | |
| 11 | g.68781887C>G | CA381631679 | CPT1A | c.1236G>C (p.Glu412Asp) c.1332G>C (p.Glu444Asp) | |
| 11 | g.68781887C>T | CA475195578 | CPT1A | c.1236G>A (p.Glu412=) c.1332G>A (p.Glu444=) | |
| 11 | g.68781888T>A | CA381631682 | CPT1A | c.1235A>T (p.Glu412Val) c.1331A>T (p.Glu444Val) | |
| 11 | g.68781888T>C | CA381631686 | CPT1A | c.1235A>G (p.Glu412Gly) c.1331A>G (p.Glu444Gly) | |
| 11 | g.68781888T>G | CA381631684 | CPT1A | c.1235A>C (p.Glu412Ala) c.1331A>C (p.Glu444Ala) | |
| 11 | g.68781889C>A | CA381631688 | CPT1A | c.1234G>T (p.Glu412Ter) c.1330G>T (p.Glu444Ter) | |
| 11 | g.68781889C>G | CA381631692 | CPT1A | c.1234G>C (p.Glu412Gln) c.1330G>C (p.Glu444Gln) | |
| 11 | g.68781889C>T | CA381631690 | CPT1A | c.1234G>A (p.Glu412Lys) c.1330G>A (p.Glu444Lys) | ClinVar dbSNP |
| 11 | g.68781890C>A | CA475195588 | CPT1A | c.1233G>T (p.Val411=) c.1329G>T (p.Val443=) | |
| 11 | g.68781890C>G | CA475195590 | CPT1A | c.1233G>C (p.Val411=) c.1329G>C (p.Val443=) | |
| 11 | g.68781890C>T | CA223374274 | CPT1A | c.1233G>A (p.Val411=) c.1329G>A (p.Val443=) | dbSNP gnomAD v4 |
| 11 | g.68781891A>C | CA381631693 | CPT1A | c.1232T>G (p.Val411Gly) c.1328T>G (p.Val443Gly) | |
| 11 | g.68781891A>G | CA381631694 | CPT1A | c.1232T>C (p.Val411Ala) c.1328T>C (p.Val443Ala) | |
| 11 | g.68781891A>T | CA381631696 | CPT1A | c.1232T>A (p.Val411Glu) c.1328T>A (p.Val443Glu) | |
| 11 | g.68781892C>A | CA381631698 | CPT1A | c.1231G>T (p.Val411Leu) c.1327G>T (p.Val443Leu) | |
| 11 | g.68781892C>G | CA381631699 | CPT1A | c.1231G>C (p.Val411Leu) c.1327G>C (p.Val443Leu) | |
| 11 | g.68781892C>T | CA381631701 | CPT1A | c.1231G>A (p.Val411Met) c.1327G>A (p.Val443Met) | |
| 11 | g.68781893A>C | CA475195606 | CPT1A | c.1230T>G (p.Ala410=) c.1326T>G (p.Ala442=) | |
| 11 | g.68781893A>G | CA475195609 | CPT1A | c.1230T>C (p.Ala410=) c.1326T>C (p.Ala442=) | |
| 11 | g.68781893A>T | CA475195611 | CPT1A | c.1230T>A (p.Ala410=) c.1326T>A (p.Ala442=) | |
| 11 | g.68781894G>A | CA381631704 | CPT1A | c.1229C>T (p.Ala410Val) c.1325C>T (p.Ala442Val) | |
| 11 | g.68781894G>C | CA381631705 | CPT1A | c.1229C>G (p.Ala410Gly) c.1325C>G (p.Ala442Gly) | |
| 11 | g.68781894G>T | CA381631706 | CPT1A | c.1229C>A (p.Ala410Asp) c.1325C>A (p.Ala442Asp) | |
| 11 | g.68781895C>A | CA381631712 | CPT1A | c.1228G>T (p.Ala410Ser) c.1324G>T (p.Ala442Ser) | |
| 11 | g.68781895C>G | CA381631711 | CPT1A | c.1228G>C (p.Ala410Pro) c.1324G>C (p.Ala442Pro) | |
| 11 | g.68781895C>T | CA381631709 | CPT1A | c.1228G>A (p.Ala410Thr) c.1324G>A (p.Ala442Thr) | |
| 11 | g.68781896A>C | CA381631713 | CPT1A | c.1227T>G (p.Asp409Glu) c.1323T>G (p.Asp441Glu) | |
| 11 | g.68781896A>G | CA475195630 | CPT1A | c.1227T>C (p.Asp409=) c.1323T>C (p.Asp441=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781896A>T | CA381631715 | CPT1A | c.1227T>A (p.Asp409Glu) c.1323T>A (p.Asp441Glu) | |
| 11 | g.68781897T>A | CA381631717 | CPT1A | c.1226A>T (p.Asp409Val) c.1322A>T (p.Asp441Val) | |
| 11 | g.68781897T>C | CA381631719 | CPT1A | c.1226A>G (p.Asp409Gly) c.1322A>G (p.Asp441Gly) | |
| 11 | g.68781897T>G | CA381631721 | CPT1A | c.1226A>C (p.Asp409Ala) c.1322A>C (p.Asp441Ala) | |
| 11 | g.68781898C>A | CA381631723 | CPT1A | c.1225G>T (p.Asp409Tyr) c.1321G>T (p.Asp441Tyr) | |
| 11 | g.68781898C>G | CA381631725 | CPT1A | c.1225G>C (p.Asp409His) c.1321G>C (p.Asp441His) | |
| 11 | g.68781898C>T | CA381631727 | CPT1A | c.1225G>A (p.Asp409Asn) c.1321G>A (p.Asp441Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781899A>C | CA475195650 | CPT1A | c.1224T>G (p.Leu408=) c.1320T>G (p.Leu440=) | |
| 11 | g.68781899A>G | CA475195651 | CPT1A | c.1224T>C (p.Leu408=) c.1320T>C (p.Leu440=) | |
| 11 | g.68781899A>T | CA475195649 | CPT1A | c.1224T>A (p.Leu408=) c.1320T>A (p.Leu440=) | |
| 11 | g.68781900A>C | CA381631729 | CPT1A | c.1223T>G (p.Leu408Arg) c.1319T>G (p.Leu440Arg) | gnomAD v4 |
| 11 | g.68781900A>G | CA381631730 | CPT1A | c.1223T>C (p.Leu408Pro) c.1319T>C (p.Leu440Pro) | |
| 11 | g.68781900A>T | CA381631731 | CPT1A | c.1223T>A (p.Leu408His) c.1319T>A (p.Leu440His) | |
| 11 | g.68781901G>A | CA381631736 | CPT1A | c.1222C>T (p.Leu408Phe) c.1318C>T (p.Leu440Phe) | |
| 11 | g.68781901G>C | CA381631734 | CPT1A | c.1222C>G (p.Leu408Val) c.1318C>G (p.Leu440Val) | |
| 11 | g.68781901G>T | CA381631732 | CPT1A | c.1222C>A (p.Leu408Ile) c.1318C>A (p.Leu440Ile) | |
| 11 | g.68781902A>C | CA475195657 | CPT1A | c.1221T>G (p.Ser407=) c.1317T>G (p.Ser439=) | |
| 11 | g.68781902A>G | CA475195659 | CPT1A | c.1221T>C (p.Ser407=) c.1317T>C (p.Ser439=) | |
| 11 | g.68781902A>T | CA475195664 | CPT1A | c.1221T>A (p.Ser407=) c.1317T>A (p.Ser439=) | gnomAD v4 |
| 11 | g.68781903G>A | CA381631737 | CPT1A | c.1220C>T (p.Ser407Phe) c.1316C>T (p.Ser439Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781903G>C | CA381631739 | CPT1A | c.1220C>G (p.Ser407Cys) c.1316C>G (p.Ser439Cys) | |
| 11 | g.68781903G>T | CA381631741 | CPT1A | c.1220C>A (p.Ser407Tyr) c.1316C>A (p.Ser439Tyr) | |
| 11 | g.68781904A>C | CA381631743 | CPT1A | c.1219T>G (p.Ser407Ala) c.1315T>G (p.Ser439Ala) | |
| 11 | g.68781904A>G | CA381631745 | CPT1A | c.1219T>C (p.Ser407Pro) c.1315T>C (p.Ser439Pro) | |
| 11 | g.68781904A>T | CA381631748 | CPT1A | c.1219T>A (p.Ser407Thr) c.1315T>A (p.Ser439Thr) | |
| 11 | g.68781905C>A | CA381631750 | CPT1A | c.1218G>T (p.Gln406His) c.1314G>T (p.Gln438His) | gnomAD v4 |
| 11 | g.68781905C>G | CA381631755 | CPT1A | c.1218G>C (p.Gln406His) c.1314G>C (p.Gln438His) | |
| 11 | g.68781905C>T | CA475195681 | CPT1A | c.1218G>A (p.Gln406=) c.1314G>A (p.Gln438=) | ClinVar gnomAD v4 |
| 11 | g.68781906T>A | CA381631759 | CPT1A | c.1217A>T (p.Gln406Leu) c.1313A>T (p.Gln438Leu) | gnomAD v4 |
| 11 | g.68781906T>C | CA381631761 | CPT1A | c.1217A>G (p.Gln406Arg) c.1313A>G (p.Gln438Arg) | gnomAD v4 |
| 11 | g.68781906T>G | CA381631762 | CPT1A | c.1217A>C (p.Gln406Pro) c.1313A>C (p.Gln438Pro) | |
| 11 | g.68781907G>A | CA381631768 | CPT1A | c.1216C>T (p.Gln406Ter) c.1312C>T (p.Gln438Ter) | ClinVar dbSNP |
| 11 | g.68781907G>C | CA381631766 | CPT1A | c.1216C>G (p.Gln406Glu) c.1312C>G (p.Gln438Glu) | |
| 11 | g.68781907G>T | CA381631764 | CPT1A | c.1216C>A (p.Gln406Lys) c.1312C>A (p.Gln438Lys) | dbSNP |
| 11 | g.68781908C>A | CA381631770 | CPT1A | c.1215G>T (p.Lys405Asn) c.1311G>T (p.Lys437Asn) | |
| 11 | g.68781908C>G | CA381631771 | CPT1A | c.1215G>C (p.Lys405Asn) c.1311G>C (p.Lys437Asn) | |
| 11 | g.68781908C>T | CA475195701 | CPT1A | c.1215G>A (p.Lys405=) c.1311G>A (p.Lys437=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781909T>A | CA381631773 | CPT1A | c.1214A>T (p.Lys405Met) c.1310A>T (p.Lys437Met) | |
| 11 | g.68781909T>C | CA381631775 | CPT1A | c.1214A>G (p.Lys405Arg) c.1310A>G (p.Lys437Arg) | |
| 11 | g.68781909T>G | CA381631779 | CPT1A | c.1214A>C (p.Lys405Thr) c.1310A>C (p.Lys437Thr) | |
| 11 | g.68781910T>A | CA381631781 | CPT1A | c.1213A>T (p.Lys405Ter) c.1309A>T (p.Lys437Ter) | ClinVar |
| 11 | g.68781910T>C | CA381631783 | CPT1A | c.1213A>G (p.Lys405Glu) c.1309A>G (p.Lys437Glu) | |
| 11 | g.68781910T>G | CA381631784 | CPT1A | c.1213A>C (p.Lys405Gln) c.1309A>C (p.Lys437Gln) | |
| 11 | g.68781911A>C | CA381631785 | CPT1A | c.1212T>G (p.Asn404Lys) c.1308T>G (p.Asn436Lys) | |
| 11 | g.68781911A>G | CA475195718 | CPT1A | c.1212T>C (p.Asn404=) c.1308T>C (p.Asn436=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68781911A>T | CA381631786 | CPT1A | c.1212T>A (p.Asn404Lys) c.1308T>A (p.Asn436Lys) | |
| 11 | g.68781912T>A | CA381631787 | CPT1A | c.1211A>T (p.Asn404Ile) c.1307A>T (p.Asn436Ile) | |
| 11 | g.68781912T>C | CA381631788 | CPT1A | c.1211A>G (p.Asn404Ser) c.1307A>G (p.Asn436Ser) | |
| 11 | g.68781912T>G | CA381631790 | CPT1A | c.1211A>C (p.Asn404Thr) c.1307A>C (p.Asn436Thr) | |
| 11 | g.68781916dup | CA2574903241 | CPT1A | c.1211dup (p.Asn404LysfsTer2) c.1307dup (p.Asn436LysfsTer2) | |
| 11 | g.68781913T>A | CA381631794 | CPT1A | c.1210A>T (p.Asn404Tyr) c.1306A>T (p.Asn436Tyr) | |
| 11 | g.68781913T>C | CA381631795 | CPT1A | c.1210A>G (p.Asn404Asp) c.1306A>G (p.Asn436Asp) | |
| 11 | g.68781913T>G | CA381631793 | CPT1A | c.1210A>C (p.Asn404His) c.1306A>C (p.Asn436His) | |
| 11 | g.68781914T>A | CA381631799 | CPT1A | c.1209A>T (p.Lys403Asn) c.1305A>T (p.Lys435Asn) | |
| 11 | g.68781914T>C | CA475195733 | CPT1A | c.1209A>G (p.Lys403=) c.1305A>G (p.Lys435=) | gnomAD v4 |
| 11 | g.68781914T>G | CA381631798 | CPT1A | c.1209A>C (p.Lys403Asn) c.1305A>C (p.Lys435Asn) | |
| 11 | g.68781915T>A | CA381631801 | CPT1A | c.1208A>T (p.Lys403Ile) c.1304A>T (p.Lys435Ile) | dbSNP gnomAD v4 |
| 11 | g.68781915T>C | CA381631803 | CPT1A | c.1208A>G (p.Lys403Arg) c.1304A>G (p.Lys435Arg) | |
| 11 | g.68781915T>G | CA381631805 | CPT1A | c.1208A>C (p.Lys403Thr) c.1304A>C (p.Lys435Thr) | |
| 11 | g.68781916T>A | CA381631807 | CPT1A | c.1207A>T (p.Lys403Ter) c.1303A>T (p.Lys435Ter) | |
| 11 | g.68781916T>C | CA381631809 | CPT1A | c.1207A>G (p.Lys403Glu) c.1303A>G (p.Lys435Glu) | |
| 11 | g.68781916T>G | CA381631813 | CPT1A | c.1207A>C (p.Lys403Gln) c.1303A>C (p.Lys435Gln) | |
| 11 | g.68781917C>A | CA475195746 | CPT1A | c.1206G>T (p.Gly402=) c.1302G>T (p.Gly434=) | |
| 11 | g.68781917C>G | CA475195748 | CPT1A | c.1206G>C (p.Gly402=) c.1302G>C (p.Gly434=) | |
| 11 | g.68781917C>T | CA475195750 | CPT1A | c.1206G>A (p.Gly402=) c.1302G>A (p.Gly434=) | |
| 11 | g.68781919_68781994del | CA2614734979 | CPT1A | c.1164-33_1206del c.1260-33_1302del | gnomAD v4 |
| 11 | g.68781918C>A | CA381631814 | CPT1A | c.1205G>T (p.Gly402Val) c.1301G>T (p.Gly434Val) | |
| 11 | g.68781918C>G | CA381631815 | CPT1A | c.1205G>C (p.Gly402Ala) c.1301G>C (p.Gly434Ala) | |
| 11 | g.68781918C>T | CA381631817 | CPT1A | c.1205G>A (p.Gly402Glu) c.1301G>A (p.Gly434Glu) | |
| 11 | g.68781919C>A | CA381631818 | CPT1A | c.1204G>T (p.Gly402Trp) c.1300G>T (p.Gly434Trp) | |
| 11 | g.68781919C>G | CA381631819 | CPT1A | c.1204G>C (p.Gly402Arg) c.1300G>C (p.Gly434Arg) | |
| 11 | g.68781919C>T | CA381631821 | CPT1A | c.1204G>A (p.Gly402Arg) c.1300G>A (p.Gly434Arg) | gnomAD v4 |
| 11 | g.68781920del | CA2739270623 | CPT1A | c.1203del (p.Asn404IlefsTer15) c.1299del (p.Asn436IlefsTer15) | ClinVar |
| 11 | g.68781920A>C | CA475195775 | CPT1A | c.1203T>G (p.Arg401=) c.1299T>G (p.Arg433=) | |
| 11 | g.68781920A>G | CA475195769 | CPT1A | c.1203T>C (p.Arg401=) c.1299T>C (p.Arg433=) | |
| 11 | g.68781920A>T | CA475195766 | CPT1A | c.1203T>A (p.Arg401=) c.1299T>A (p.Arg433=) | |
| 11 | g.68781921C>A | CA381631825 | CPT1A | c.1202G>T (p.Arg401Leu) c.1298G>T (p.Arg433Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781921C>G | CA381631823 | CPT1A | c.1202G>C (p.Arg401Pro) c.1298G>C (p.Arg433Pro) | |
| 11 | g.68781921C>T | CA6152370 | CPT1A | c.1202G>A (p.Arg401His) c.1298G>A (p.Arg433His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68781922G>A | CA223374277 | CPT1A | c.1201C>T (p.Arg401Cys) c.1297C>T (p.Arg433Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781922G>C | CA381631827 | CPT1A | c.1201C>G (p.Arg401Gly) c.1297C>G (p.Arg433Gly) | |
| 11 | g.68781922G>T | CA381631829 | CPT1A | c.1201C>A (p.Arg401Ser) c.1297C>A (p.Arg433Ser) | gnomAD v4 |
| 11 | g.68781923T>A | CA475195799 | CPT1A | c.1200A>T (p.Gly400=) c.1296A>T (p.Gly432=) | |
| 11 | g.68781923T>C | CA475195798 | CPT1A | c.1200A>G (p.Gly400=) c.1296A>G (p.Gly432=) | |
| 11 | g.68781923T>G | CA475195795 | CPT1A | c.1200A>C (p.Gly400=) c.1296A>C (p.Gly432=) | |
| 11 | g.68781924C>A | CA381631832 | CPT1A | c.1199G>T (p.Gly400Val) c.1295G>T (p.Gly432Val) | |
| 11 | g.68781924C>G | CA223374278 | CPT1A | c.1199G>C (p.Gly400Ala) c.1295G>C (p.Gly432Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781924C>T | CA381631835 | CPT1A | c.1199G>A (p.Gly400Glu) c.1295G>A (p.Gly432Glu) | COSMIC |
| 11 | g.68781925C>A | CA381631837 | CPT1A | c.1198G>T (p.Gly400Ter) c.1294G>T (p.Gly432Ter) | |
| 11 | g.68781925C>G | CA381631838 | CPT1A | c.1198G>C (p.Gly400Arg) c.1294G>C (p.Gly432Arg) | |
| 11 | g.68781925C>T | CA381631840 | CPT1A | c.1198G>A (p.Gly400Arg) c.1294G>A (p.Gly432Arg) | gnomAD v4 |
| 11 | g.68781926A>C | CA381631842 | CPT1A | c.1197T>G (p.Phe399Leu) c.1293T>G (p.Phe431Leu) | |
| 11 | g.68781926A>G | CA6152371 | CPT1A | c.1197T>C (p.Phe399=) c.1293T>C (p.Phe431=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781926A>T | CA381631845 | CPT1A | c.1197T>A (p.Phe399Leu) c.1293T>A (p.Phe431Leu) | |
| 11 | g.68781927A>C | CA381631852 | CPT1A | c.1196T>G (p.Phe399Cys) c.1292T>G (p.Phe431Cys) | |
| 11 | g.68781927A>G | CA381631850 | CPT1A | c.1196T>C (p.Phe399Ser) c.1292T>C (p.Phe431Ser) | |
| 11 | g.68781927A>T | CA381631848 | CPT1A | c.1196T>A (p.Phe399Tyr) c.1292T>A (p.Phe431Tyr) | |
| 11 | g.68781928A>C | CA381631853 | CPT1A | c.1195T>G (p.Phe399Val) c.1291T>G (p.Phe431Val) | |
| 11 | g.68781928A>G | CA381631855 | CPT1A | c.1195T>C (p.Phe399Leu) c.1291T>C (p.Phe431Leu) | |
| 11 | g.68781928A>T | CA381631857 | CPT1A | c.1195T>A (p.Phe399Ile) c.1291T>A (p.Phe431Ile) | |
| 11 | g.68781929A>C | CA381631867 | CPT1A | c.1194T>G (p.Tyr398Ter) c.1290T>G (p.Tyr430Ter) | |
| 11 | g.68781929A>G | CA475195830 | CPT1A | c.1194T>C (p.Tyr398=) c.1290T>C (p.Tyr430=) | |
| 11 | g.68781929A>T | CA381631870 | CPT1A | c.1194T>A (p.Tyr398Ter) c.1290T>A (p.Tyr430Ter) | |
| 11 | g.68781930T>A | CA381631879 | CPT1A | c.1193A>T (p.Tyr398Phe) c.1289A>T (p.Tyr430Phe) | |
| 11 | g.68781930T>C | CA381631876 | CPT1A | c.1193A>G (p.Tyr398Cys) c.1289A>G (p.Tyr430Cys) | gnomAD v4 |
| 11 | g.68781930T>G | CA381631875 | CPT1A | c.1193A>C (p.Tyr398Ser) c.1289A>C (p.Tyr430Ser) | |
| 11 | g.68781931A>C | CA381631882 | CPT1A | c.1192T>G (p.Tyr398Asp) c.1288T>G (p.Tyr430Asp) | |
| 11 | g.68781931A>G | CA381631883 | CPT1A | c.1192T>C (p.Tyr398His) c.1288T>C (p.Tyr430His) | ClinVar dbSNP |
| 11 | g.68781931A>T | CA381631886 | CPT1A | c.1192T>A (p.Tyr398Asn) c.1288T>A (p.Tyr430Asn) | |
| 11 | g.68781932G>A | CA475195840 | CPT1A | c.1191C>T (p.Ala397=) c.1287C>T (p.Ala429=) | |
| 11 | g.68781932G>C | CA475195842 | CPT1A | c.1191C>G (p.Ala397=) c.1287C>G (p.Ala429=) | |
| 11 | g.68781932G>T | CA475195844 | CPT1A | c.1191C>A (p.Ala397=) c.1287C>A (p.Ala429=) | |
| 11 | g.68781933G>A | CA381631889 | CPT1A | c.1190C>T (p.Ala397Val) c.1286C>T (p.Ala429Val) | |
| 11 | g.68781933G>C | CA381631891 | CPT1A | c.1190C>G (p.Ala397Gly) c.1286C>G (p.Ala429Gly) | |
| 11 | g.68781933G>T | CA381631894 | CPT1A | c.1190C>A (p.Ala397Asp) c.1286C>A (p.Ala429Asp) | |
| 11 | g.68781934C>A | CA381631896 | CPT1A | c.1189G>T (p.Ala397Ser) c.1285G>T (p.Ala429Ser) | |
| 11 | g.68781934C>G | CA381631902 | CPT1A | c.1189G>C (p.Ala397Pro) c.1285G>C (p.Ala429Pro) | |
| 11 | g.68781934C>T | CA381631898 | CPT1A | c.1189G>A (p.Ala397Thr) c.1285G>A (p.Ala429Thr) | ClinVar gnomAD v4 |
| 11 | g.68781935C>A | CA381631905 | CPT1A | c.1188G>T (p.Gln396His) c.1284G>T (p.Gln428His) | |
| 11 | g.68781935C>G | CA381631907 | CPT1A | c.1188G>C (p.Gln396His) c.1284G>C (p.Gln428His) | |
| 11 | g.68781935C>T | CA475195863 | CPT1A | c.1188G>A (p.Gln396=) c.1284G>A (p.Gln428=) | ClinVar |
| 11 | g.68781936T>A | CA381631909 | CPT1A | c.1187A>T (p.Gln396Leu) c.1283A>T (p.Gln428Leu) | |
| 11 | g.68781936T>C | CA381631914 | CPT1A | c.1187A>G (p.Gln396Arg) c.1283A>G (p.Gln428Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781936T>G | CA381631915 | CPT1A | c.1187A>C (p.Gln396Pro) c.1283A>C (p.Gln428Pro) | |
| 11 | g.68781937G>A | CA381631917 | CPT1A | c.1186C>T (p.Gln396Ter) c.1282C>T (p.Gln428Ter) | |
| 11 | g.68781937G>C | CA381631919 | CPT1A | c.1186C>G (p.Gln396Glu) c.1282C>G (p.Gln428Glu) | |
| 11 | g.68781937G>T | CA381631921 | CPT1A | c.1186C>A (p.Gln396Lys) c.1282C>A (p.Gln428Lys) | |
| 11 | g.68781940_68781942del | CA2695214941 | CPT1A | c.1184_1186del (p.Arg395del) c.1280_1282del (p.Arg427del) | |
| 11 | g.68781938A>C | CA475195873 | CPT1A | c.1185T>G (p.Arg395=) c.1281T>G (p.Arg427=) | |
| 11 | g.68781938A>G | CA475195874 | CPT1A | c.1185T>C (p.Arg395=) c.1281T>C (p.Arg427=) | |
| 11 | g.68781938A>T | CA475195877 | CPT1A | c.1185T>A (p.Arg395=) c.1281T>A (p.Arg427=) | |
| 11 | g.68781939C>A | CA381631929 | CPT1A | c.1184G>T (p.Arg395Leu) c.1280G>T (p.Arg427Leu) | |
| 11 | g.68781939C>G | CA381631932 | CPT1A | c.1184G>C (p.Arg395Pro) c.1280G>C (p.Arg427Pro) | ClinVar dbSNP |
| 11 | g.68781939C>T | CA6152372 | CPT1A | c.1184G>A (p.Arg395His) c.1280G>A (p.Arg427His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781940G>A | CA381631942 | CPT1A | c.1183C>T (p.Arg395Cys) c.1279C>T (p.Arg427Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781940G>C | CA381631940 | CPT1A | c.1183C>G (p.Arg395Gly) c.1279C>G (p.Arg427Gly) | |
| 11 | g.68781940G>T | CA381631937 | CPT1A | c.1183C>A (p.Arg395Ser) c.1279C>A (p.Arg427Ser) | |
| 11 | g.68781941A>C | CA381631945 | CPT1A | c.1182T>G (p.Cys394Trp) c.1278T>G (p.Cys426Trp) | |
| 11 | g.68781941A>G | CA475195888 | CPT1A | c.1182T>C (p.Cys394=) c.1278T>C (p.Cys426=) | |
| 11 | g.68781941A>T | CA381631947 | CPT1A | c.1182T>A (p.Cys394Ter) c.1278T>A (p.Cys426Ter) | |
| 11 | g.68781942C>A | CA381631951 | CPT1A | c.1181G>T (p.Cys394Phe) c.1277G>T (p.Cys426Phe) | |
| 11 | g.68781942C>G | CA381631954 | CPT1A | c.1181G>C (p.Cys394Ser) c.1277G>C (p.Cys426Ser) | |
| 11 | g.68781942C>T | CA381631957 | CPT1A | c.1181G>A (p.Cys394Tyr) c.1277G>A (p.Cys426Tyr) | dbSNP gnomAD v2 |
| 11 | g.68781943A>C | CA381631960 | CPT1A | c.1180T>G (p.Cys394Gly) c.1276T>G (p.Cys426Gly) | |
| 11 | g.68781943A>G | CA381631962 | CPT1A | c.1180T>C (p.Cys394Arg) c.1276T>C (p.Cys426Arg) | |
| 11 | g.68781943A>T | CA381631965 | CPT1A | c.1180T>A (p.Cys394Ser) c.1276T>A (p.Cys426Ser) | |
| 11 | g.68781944C>A | CA381631970 | CPT1A | c.1179G>T (p.Arg393Ser) c.1275G>T (p.Arg425Ser) | |
| 11 | g.68781944C>G | CA381631968 | CPT1A | c.1179G>C (p.Arg393Ser) c.1275G>C (p.Arg425Ser) | |
| 11 | g.68781944C>T | CA6152373 | CPT1A | c.1179G>A (p.Arg393=) c.1275G>A (p.Arg425=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781945C>A | CA381631971 | CPT1A | c.1178G>T (p.Arg393Met) c.1274G>T (p.Arg425Met) | |
| 11 | g.68781945C>G | CA381631972 | CPT1A | c.1178G>C (p.Arg393Thr) c.1274G>C (p.Arg425Thr) | |
| 11 | g.68781945C>T | CA381631974 | CPT1A | c.1178G>A (p.Arg393Lys) c.1274G>A (p.Arg425Lys) | |
| 11 | g.68781946T>A | CA381631978 | CPT1A | c.1177A>T (p.Arg393Trp) c.1273A>T (p.Arg425Trp) | |
| 11 | g.68781946T>C | CA381631980 | CPT1A | c.1177A>G (p.Arg393Gly) c.1273A>G (p.Arg425Gly) | gnomAD v4 |
| 11 | g.68781946T>G | CA475195915 | CPT1A | c.1177A>C (p.Arg393=) c.1273A>C (p.Arg425=) | |
| 11 | g.68781947G>A | CA6152374 | CPT1A | c.1176C>T (p.Ala392=) c.1272C>T (p.Ala424=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781947G>C | CA475195916 | CPT1A | c.1176C>G (p.Ala392=) c.1272C>G (p.Ala424=) | |
| 11 | g.68781947G>T | CA475195917 | CPT1A | c.1176C>A (p.Ala392=) c.1272C>A (p.Ala424=) | |
| 11 | g.68781948G>A | CA381631984 | CPT1A | c.1175C>T (p.Ala392Val) c.1271C>T (p.Ala424Val) | |
| 11 | g.68781948G>C | CA381631986 | CPT1A | c.1175C>G (p.Ala392Gly) c.1271C>G (p.Ala424Gly) | |
| 11 | g.68781948G>T | CA381631985 | CPT1A | c.1175C>A (p.Ala392Asp) c.1271C>A (p.Ala424Asp) | |
| 11 | g.68781949C>A | CA381631987 | CPT1A | c.1174G>T (p.Ala392Ser) c.1270G>T (p.Ala424Ser) | |
| 11 | g.68781949C>G | CA381631988 | CPT1A | c.1174G>C (p.Ala392Pro) c.1270G>C (p.Ala424Pro) | |
| 11 | g.68781949C>T | CA381631990 | CPT1A | c.1174G>A (p.Ala392Thr) c.1270G>A (p.Ala424Thr) | |
| 11 | g.68781950C>A | CA381631992 | CPT1A | c.1173G>T (p.Trp391Cys) c.1269G>T (p.Trp423Cys) | |
| 11 | g.68781950C>G | CA381631993 | CPT1A | c.1173G>C (p.Trp391Cys) c.1269G>C (p.Trp423Cys) | |
| 11 | g.68781950C>T | CA381631994 | CPT1A | c.1173G>A (p.Trp391Ter) c.1269G>A (p.Trp423Ter) | ClinVar gnomAD v4 |
| 11 | g.68781951C>A | CA381631995 | CPT1A | c.1172G>T (p.Trp391Leu) c.1268G>T (p.Trp423Leu) | |
| 11 | g.68781951C>G | CA381631997 | CPT1A | c.1172G>C (p.Trp391Ser) c.1268G>C (p.Trp423Ser) | |
| 11 | g.68781951C>T | CA381631999 | CPT1A | c.1172G>A (p.Trp391Ter) c.1268G>A (p.Trp423Ter) | ClinVar |
| 11 | g.68781952A>C | CA381632000 | CPT1A | c.1171T>G (p.Trp391Gly) c.1267T>G (p.Trp423Gly) | |
| 11 | g.68781952A>G | CA381632003 | CPT1A | c.1171T>C (p.Trp391Arg) c.1267T>C (p.Trp423Arg) | |
| 11 | g.68781952A>T | CA381632005 | CPT1A | c.1171T>A (p.Trp391Arg) c.1267T>A (p.Trp423Arg) | |
| 11 | g.68781953G>A | CA475195927 | CPT1A | c.1170C>T (p.Pro390=) c.1266C>T (p.Pro422=) | COSMIC COSMIC |
| 11 | g.68781953G>C | CA475195929 | CPT1A | c.1170C>G (p.Pro390=) c.1266C>G (p.Pro422=) | |
| 11 | g.68781953G>T | CA475195928 | CPT1A | c.1170C>A (p.Pro390=) c.1266C>A (p.Pro422=) | |
| 11 | g.68781954G>A | CA381632008 | CPT1A | c.1169C>T (p.Pro390Leu) c.1265C>T (p.Pro422Leu) | |
| 11 | g.68781954G>C | CA381632015 | CPT1A | c.1169C>G (p.Pro390Arg) c.1265C>G (p.Pro422Arg) | |
| 11 | g.68781954G>T | CA381632013 | CPT1A | c.1169C>A (p.Pro390His) c.1265C>A (p.Pro422His) | |
| 11 | g.68781955G>A | CA381632018 | CPT1A | c.1168C>T (p.Pro390Ser) c.1264C>T (p.Pro422Ser) | COSMIC COSMIC |
| 11 | g.68781955G>C | CA381632020 | CPT1A | c.1168C>G (p.Pro390Ala) c.1264C>G (p.Pro422Ala) | gnomAD v4 |
| 11 | g.68781955G>T | CA381632024 | CPT1A | c.1168C>A (p.Pro390Thr) c.1264C>A (p.Pro422Thr) | |
| 11 | g.68781956A>C | CA475195937 | CPT1A | c.1167T>G (p.Val389=) c.1263T>G (p.Val421=) | |
| 11 | g.68781956A>G | CA475195938 | CPT1A | c.1167T>C (p.Val389=) c.1263T>C (p.Val421=) | |
| 11 | g.68781956A>T | CA475195940 | CPT1A | c.1167T>A (p.Val389=) c.1263T>A (p.Val421=) | |
| 11 | g.68781957A>C | CA381632027 | CPT1A | c.1166T>G (p.Val389Gly) c.1262T>G (p.Val421Gly) | |
| 11 | g.68781957A>G | CA381632041 | CPT1A | c.1166T>C (p.Val389Ala) c.1262T>C (p.Val421Ala) | |
| 11 | g.68781957A>T | CA381632043 | CPT1A | c.1166T>A (p.Val389Asp) c.1262T>A (p.Val421Asp) | |
| 11 | g.68781958C>A | CA381632045 | CPT1A | c.1165G>T (p.Val389Phe) c.1261G>T (p.Val421Phe) | |
| 11 | g.68781958C>G | CA381632048 | CPT1A | c.1165G>C (p.Val389Leu) c.1261G>C (p.Val421Leu) | |
| 11 | g.68781958C>T | CA6152375 | CPT1A | c.1165G>A (p.Val389Ile) c.1261G>A (p.Val421Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781959T>A | CA381632051 | CPT1A | c.1164A>T (p.Arg388Ser) c.1260A>T (p.Arg420Ser) | |
| 11 | g.68781959T>C | CA475195954 | CPT1A | c.1164A>G (p.Arg388=) c.1260A>G (p.Arg420=) | |
| 11 | g.68781959T>G | CA381632053 | CPT1A | c.1164A>C (p.Arg388Ser) c.1260A>C (p.Arg420Ser) | |
| 11 | g.68781960C>A | CA381632059 | CPT1A | c.1164-1G>T (n.1164-1G>T) c.1260-1G>T (n.1260-1G>T) | |
| 11 | g.68781960C>G | CA381632057 | CPT1A | c.1164-1G>C (n.1164-1G>C) c.1260-1G>C (n.1260-1G>C) | |
| 11 | g.68781960C>T | CA381632055 | CPT1A | c.1164-1G>A (n.1164-1G>A) c.1260-1G>A (n.1260-1G>A) | |
| 11 | g.68781961T>A | CA381632063 | CPT1A | c.1164-2A>T (n.1164-2A>T) c.1260-2A>T (n.1260-2A>T) | |
| 11 | g.68781961T>C | CA381632065 | CPT1A | c.1164-2A>G (n.1164-2A>G) c.1260-2A>G (n.1260-2A>G) | ClinVar |
| 11 | g.68781961T>G | CA381632066 | CPT1A | c.1164-2A>C (n.1164-2A>C) c.1260-2A>C (n.1260-2A>C) | gnomAD v4 |
| 11 | g.68781962G>T | CA2792552973 | CPT1A | c.1164-3C>A (n.1164-3C>A) c.1260-3C>A (n.1260-3C>A) | |
| 11 | g.68781963C>A | CA6152376 | CPT1A | c.1164-4G>T (n.1164-4G>T) c.1260-4G>T (n.1260-4G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781963C>T | CA599989265 | CPT1A | c.1164-4G>A (n.1164-4G>A) c.1260-4G>A (n.1260-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781970G>A | CA2574903242 | CPT1A | c.1164-11C>T (n.1164-11C>T) c.1260-11C>T (n.1260-11C>T) | |
| 11 | g.68781970G>C | CA2574903243 | CPT1A | c.1164-11C>G (n.1164-11C>G) c.1260-11C>G (n.1260-11C>G) | |
| 11 | g.68781972_68781974del | CA2614734983 | CPT1A | c.1164-13_1164-11del (n.1164-13_1164-11del) c.1260-13_1260-11del (n.1260-13_1260-11del) | gnomAD v4 |
| 11 | g.68781971A>T | CA939176395 | CPT1A | c.1164-12T>A (n.1164-12T>A) c.1260-12T>A (n.1260-12T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781971_68781972insAAGCAGCGTTCTTCG | CA2567638594 | CPT1A | c.1164-13_1164-12insCGAAGAACGCTGCTT (n.1164-13_1164-12insCGAAGAACGCTGCTT) c.1260-13_1260-12insCGAAGAACGCTGCTT (n.1260-13_1260-12insCGAAGAACGCTGCTT) | |
| 11 | g.68781972T>C | CA2697548765 | CPT1A | c.1164-13A>G (n.1164-13A>G) c.1260-13A>G (n.1260-13A>G) | ClinVar |
| 11 | g.68781973G>A | CA2580084946 | CPT1A | c.1164-14C>T (n.1164-14C>T) c.1260-14C>T (n.1260-14C>T) | ClinVar |
| 11 | g.68781973G>T | CA2724262879 | CPT1A | c.1164-14C>A (n.1164-14C>A) c.1260-14C>A (n.1260-14C>A) | dbSNP |
| 11 | g.68781975_68781978del | CA2522732449 | CPT1A | c.1164-18_1164-15del (n.1164-18_1164-15del) c.1260-18_1260-15del (n.1260-18_1260-15del) | |
| 11 | g.68781977T>C | CA2614734984 | CPT1A | c.1164-18A>G (n.1164-18A>G) c.1260-18A>G (n.1260-18A>G) | gnomAD v4 |
| 11 | g.68781978A>G | CA599989267 | CPT1A | c.1164-19T>C (n.1164-19T>C) c.1260-19T>C (n.1260-19T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781979C>T | CA6152377 | CPT1A | c.1164-20G>A (n.1164-20G>A) c.1260-20G>A (n.1260-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781980G>A | CA6152378 | CPT1A | c.1164-21C>T (n.1164-21C>T) c.1260-21C>T (n.1260-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |